Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
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{%raw%}@article{wangler2014heterozygous,
title ={Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome},
author ={Wangler, Michael F and Gonzaga-Jauregui, Claudia and Gambin, Tomasz and Penney, Samantha and Moss, Timothy and Chopra, Atul and Probst, Frank J and Xia, Fan and Yang, Yaping and Werlin, Steven and others},
journal ={PLoS genetics},
volume ={10},
number ={3},
pages ={e1004258},
year ={2014},
publisher ={Public Library of Science},
public ={yes}}{%endraw%}